Publications
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Filters: Author is Stankiewicz, Pawel and Keyword is Genotype [Clear All Filters]
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 ;95(2):143-61.
. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 ;362(13):1181-91.
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